Variant (rsID / SNP)

rs61753771

rs61753771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP20. Location: chromosome 11, position 102,482,626. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MMP20Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:102482626
Cytoband: 11q22.2
HGVS: NM_004771.4(MMP20):c.383A>C (p.Lys128Thr)
Allele change: Missense_K128T

Associated conditions / phenotypes

Amelogenesis imperfecta hypomaturation type 2A2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.